KRT81
{{Infobox_gene}}
Keratin, type II cuticular Hb1 is a protein that in humans is encoded by the KRT81 gene.{{cite journal |vauthors=Rogers MA, Nischt R, Korge B, Krieg T, Fink TM, Lichter P, Winter H, Schweizer J | title = Sequence data and chromosomal localization of human type I and type II hair keratin genes | journal = Exp Cell Res | volume = 220 | issue = 2 | pages = 357–62 |date=Nov 1995 | pmid = 7556444 | doi = 10.1006/excr.1995.1326 }}{{cite journal |vauthors=Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW | title = New consensus nomenclature for mammalian keratins | journal = J Cell Biol | volume = 174 | issue = 2 | pages = 169–74 |date=Jul 2006 | pmid = 16831889 | pmc = 2064177 | doi = 10.1083/jcb.200603161 }}{{cite web | title = Entrez Gene: KRT81 keratin 81| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3887}}
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix.{{cite web | title = Entrez Gene: KRT81 keratin 81| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3887}}
References
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Further reading
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- {{cite journal |vauthors=Coulombe PA, Omary MB |title='Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments. |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 1 |pages= 110–22 |year= 2002 |pmid= 11792552 |doi=10.1016/S0955-0674(01)00301-5 }}
- {{cite journal |vauthors=Langbein L, Schweizer J |title=Keratins of the human hair follicle. |journal=Int. Rev. Cytol. |series=International Review of Cytology |volume=243 |pages= 1–78 |year= 2005 |pmid= 15797458 |doi= 10.1016/S0074-7696(05)43001-6 |isbn=9780123646477 }}
- {{cite journal |vauthors=Tomasetto C, Régnier C, Moog-Lutz C, etal |title=Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. |journal=Genomics |volume=28 |issue= 3 |pages= 367–76 |year= 1996 |pmid= 7490069 |doi= 10.1006/geno.1995.1163 }}
- {{cite journal |vauthors=Bowden PE, Hainey S, Parker G, Hodgins MB |title=Sequence and expression of human hair keratin genes. |journal=J. Dermatol. Sci. |volume=7 Suppl |pages= S152–63 |year= 1995 |pmid= 7528047 |doi= 10.1016/0923-1811(94)90046-9 }}
- {{cite journal |vauthors=Winter H, Rogers MA, Gebhardt M, etal |title=A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. |journal=Hum. Genet. |volume=101 |issue= 2 |pages= 165–9 |year= 1998 |pmid= 9402962 |doi=10.1007/s004390050607 |s2cid=20555394 }}
- {{cite journal |vauthors=Bowden PE, Hainey SD, Parker G, etal |title=Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. |journal=J. Invest. Dermatol. |volume=110 |issue= 2 |pages= 158–64 |year= 1998 |pmid= 9457912 |doi= 10.1046/j.1523-1747.1998.00097.x |doi-access= free }}
- {{cite journal |vauthors=Winter H, Labrèze C, Chapalain V, etal |title=A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1. |journal=J. Invest. Dermatol. |volume=111 |issue= 1 |pages= 169–72 |year= 1998 |pmid= 9665406 |doi= 10.1046/j.1523-1747.1998.00234.x |doi-access= free }}
- {{cite journal |vauthors=Rogers MA, Winter H, Langbein L, etal |title=Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. |journal=J. Invest. Dermatol. |volume=114 |issue= 3 |pages= 464–72 |year= 2000 |pmid= 10692104 |doi= 10.1046/j.1523-1747.2000.00910.x |doi-access= free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Nishikawa J, Kiss C, Imai S, etal |title=Upregulation of the truncated basic hair keratin 1(hHb1-DeltaN) in carcinoma cells by Epstein-Barr virus (EBV). |journal=Int. J. Cancer |volume=107 |issue= 4 |pages= 597–602 |year= 2003 |pmid= 14520698 |doi= 10.1002/ijc.11289 |s2cid=2569578 |doi-access=free }}
- {{cite journal |vauthors=Colland F, Jacq X, Trouplin V, etal |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R |s2cid=4427026 }}
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{{Cytoskeletal proteins}}
{{gene-12-stub}}